Case report: Revealing the rare—a Brody Disease patient from Turkey expanding the phenotype

Brody Disease is an exceptionally rare, autosomal recessive myopathy attributed to the pathogenic variants in the ATP2A1, which encodes the sarcoplasmic/endoplasmic reticulum Ca (2+) ATPase type 1 protein SERCA1. It was first described by Brody IA in 1969. To date, only thirty-three Brody families with forty-seven patients have been reported in the literature, and the disease prevalence is considered as 1 in 10 million, demonstrating the peculiarity of the disease. Clinical characteristics of Brody Disease include muscle stiffness after exercise, myalgia, and muscle cramps. Brody Disease patients generally have disease onset in the first decade, and genetic diagnosis is delayed as a consequence of both the rareness and the mild course of the disease. Here, we report a Turkish Brody Disease patient with a homozygous c.428G>A p.Arg143Gln (NM_004320.4) missense mutation in the ATP2A1. The male patient, whose symptoms started at the age of 14–15, is now 36 years old. His clinical manifestations are athletic appearance, exotropia, slightly elevated creatine kinase (CK), mild progressive proximal muscle weakness in the lower extremities, muscle cramps, pain and stiffness. The patient described here has a very mild progression with an onset in the second decade, expanding the Brody Disease phenotype. The study also implies that in the era of emerging genetic therapies, the routine testing of patients with myopathies is a prerequisite since not only future therapies will be designed on molecular findings, but also currently available symptomatic and palliative treatment options will be more precisely applied

Pseudomonas putida induces resistance to Fusarium oxysporum f. sp. radicis-lycopersici in tomato plants by activating expression of defense-related genes

Plant growth-promoting rhizobacteria (PGPR) may prevent attack from pathogenic microorganisms by eliciting induced systemic resistance (ISR). In the present work, Pseudomonas putida isolate TR21/1 showed significant biological control of tomato seedlings inoculated with Fusarium oxysporum f.sp. radicis-lycopersici (FORL). Here, the SA-responsive genes PR-1, PR-4, PR-6 and CH9 were downregulated upon induction of ISR by P. putida strain TR21/1 and induced when bacterized tomato roots were inoculated with FORL. This indicates that SAR involves the accumulation of SA-responsive genes but ISR does not. Similarly, expression of ET-regulated genes such as ACO1, ACO3, ACO4 were not induced in ISR-expressing tomato roots and P. putida treatment induced only ACO2 expression suggesting that ACO2 expression is involved in ISR-expressing tomato seedlings. In contrast, the infection of ISR expressing plants by FORL strongly induced ACO3, ACO2, and ACO1 indicating the transcriptional regulation of ACO genes in response to FORL attack which may be related to possible ethylene synthesis in response to pathogen. Here P. putida treatment increased ETR1 gene expression in roots and this induction was upregulated in presence of FORL indicating that ETR1 plays a role in the protection of plants against FORL by reducing ethylene sensitivity. Activation of SA-and ET- regulated genes in bacterized plants in the presence of FORL implies that not only SA but other signals as well, may play an important role in inducing resistance

1988-1989 sezonunda Galatasaray Spor Kulübü'nün şampiyon kulüpler kupası yarı final macerası

Ankara : İhsan Doğramacı Bilkent Üniversitesi İktisadi, İdari ve Sosyal Bilimler Fakültesi, Tarih Bölümü, 2016.This work is a student project of the The Department of History, Faculty of Economics, Administrative and Social Sciences, İhsan Doğramacı Bilkent University.by Öztürk, İbrahim Mert

The Clinical Characteristics of Patients Applied to Covid-19 Outpatient Clinics of a Tertiary Hospital in Turkey in the First Wave of Pandemic

Background: The first wave of COVID-19 pandemic began to spread in Turkey in March 2020. As one of the first pandemic hospitals, very intense patient admissions have been made to our outpatient clinics in this period. For better understanding the disease characteristics, we investigated the clinical findings, comorbidities, and radiological pulmonary involvement of the COVID-19 patients.Methods:&nbsp;The SARS-CoV-2 RT-PCR test results of 6966 patients, applied to Kartal Lutfi&nbsp;Kırdar City Hospital InfectiousDiseases and Clinical Microbiology COVID-19 outpatient clinics between March and June 2020, were analyzed retrospectively. Demographic, clinical, and thoracic computed tomography data of the patients with positive test results were evaluated.Results:&nbsp;2672(38.4%) patients were SARS-CoV-2 RT-PCR positive (1465 males, 1207 females). The mean age of the patients with a definite diagnosis of COVID-19 was 40.4±14.5 years (12-94 years). There was a statistically significant relationship between the age and COVID-19 (75.3% were &gt;65 years, p&lt;0.001). The main clinical findings were fever (n:2437, 91.2%), cough (n:2013, 75.3%), dyspnea (n:809, 30.2%), sore throat (n:257, 9.6%), weakness (n:244, 9.1%), myalgia (n:228, 8.5%), nausea/vomiting (n:135, 5.1%), diarrhea (n:80, 3%), anosmia (n:54, 2%), and loss of taste (n:54, 2%). The comorbidities found in our COVID-19 patients were hypertension(HT) (n:94, 3.5%), diabetes mellitus(DM) (n:70, 2.6%), chronic obstructive pulmonary disease(COPD) (n:68, 2.5%), coronary artery disease(CAD) (n:32, 1.2%) and malignancy (n:16, 0.6%). 4113 patients (75.2%), out of 5484 patients who had thorax CT, had COVID-19 compatible radiological involvement, with 3315(80.6%) positive and 798(19.4%) negative SARS-CoV-2 RT-PCR test results.Conclusion:&nbsp;The most frequent symptoms in the patients admitted to our hospital in the first wave of pandemic were fever, cough, dyspnea, sore throat, and weakness. Despite lockdown, the elderly above 65 years were most affected. The&nbsp;rate of COVID-19 compliant radiological involvement was moderately high. The most common comorbidities were HT, DM, COPD, CAD and malignancy.</div

Re-examining the characteristics of pediatric multiple sclerosis in the era of antibody-associated demyelinating syndromes.

Background: The discovery of anti-myelin oligodendrocyte glycoprotein (MOG)-IgG and anti-aquaporin 4 (AQP4)-IgG and the observation on certain patients previously diagnosed with multiple sclerosis (MS) actually have an antibody-mediated disease mandated re-evaluation of pediatric MS series. Aim: To describe the characteristics of recent pediatric MS cases by age groups and compare with the cohort established before 2015. Method: Data of pediatric MS patients diagnosed between 2015 and 2021 were collected from 44 pediatric neurology centers across Turkiye. Clinical and paraclinical features were compared between patients with dis-ease onset before 12 years (earlier onset) and >= 12 years (later onset) as well as between our current (2015-2021) and previous (< 2015) cohorts. Results: A total of 634 children (456 girls) were enrolled, 89 (14%) were of earlier onset. The earlier-onset group had lower female/male ratio, more frequent initial diagnosis of acute disseminated encephalomyelitis (ADEM), more frequent brainstem symptoms, longer interval between the first two attacks, less frequent spinal cord involvement on magnetic resonance imaging (MRI), and lower prevalence of cerebrospinal fluid (CSF)-restricted oligoclonal bands (OCBs). The earlier-onset group was less likely to respond to initial disease-modifying treatments. Compared to our previous cohort, the current series had fewer patients with onset < 12 years, initial presentation with ADEM-like features, brainstem or cerebellar symptoms, seizures, and spinal lesions on MRI. The female/male ratio, the frequency of sensorial symptoms, and CSF-restricted OCBs were higher than reported in our previous cohort. Conclusion: Pediatric MS starting before 12 years was less common than reported previously, likely due to exclusion of patients with antibody-mediated diseases. The results underline the importance of antibody testing and indicate pediatric MS may be a more homogeneous disorder and more similar to adult-onset MS than previously thought